Ohdo Syndrome, Sbbys Variant (SBBYSS)

Alias:

Say-Barber-Biesecker-Young-Simpson Syndrome

Sbbyss

Young-Simpson Syndrome

Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type

Young Simpson Syndrome

Blepharophimosis - Intellectual Disability Syndrome, Sbbys Type

Sbbys Variant of Ohdo Syndrome

Yss

Blepharophimosis and Mental Retardation Syndrome, Say-Barber/biesecker/young-Simpson Type

Blepharophimosis-Intellectual Deficit Syndrome, Say-Barber/biesecker/young-Simpson Type

Hypothyroidism-Dysmorphism-Postaxial Polydactyly-Intellectual Disability Syndrome

Say-Barber-Biesecker-Young-Simpson Variant of Ohdo Syndrome

Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant

Say-Barber-Biesecker Variant of Ohdo Syndrome

Ohdo Syndrome, Say-Barber-Biesecker Variant

Sbbyss Syndrome

Bmrs Sbbys

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Ohdo Syndrome, Sbbys Variant, also known as say-barber-biesecker-young-simpson syndrome, is related to blepharophimosis and laryngomalacia. An important gene associated with Ohdo Syndrome, Sbbys Variant is KAT6B (Lysine Acetyltransferase 6B), and among its related pathways/superpathways are Regulation of TP53 Activity and Chromatin organization. Affiliated tissues include thyroid and eye, and related phenotypes are intellectual disability and hypothyroidism

Related ID：

MALACARDS：OHD005

OMIM：603736

MESH：C536717